title: Neuroacanthocytosis: a rare inherited movement disorder.
abstract: The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. The inheritance is usually autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. We report here a young man who presented with choreo-athetoid movement, dystonia, tics, symmetrical axonal polyneuropathy with normal cognitive function. The subsequent peripheral blood film reveals acanthocytes > 5%. Diagnosis of neuroacanthocytosis was made.
authors.affiliation: Department of Medicine, Penang Hospital, Kuala Lumpur.
authors.forename: I
authors.initials: I
authors.lastname: Looi
authors.forename: G B
authors.initials: GB
authors.lastname: Eow
authors.forename: A M
authors.initials: AM
authors.lastname: Norlia
authors.forename: D P
authors.initials: DP
authors.lastname: Santhi
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D054546:Neuroacanthocytosis / Q000175:diagnosis*